Classification of the distal hereditary motor neuropathies
| Type | Inheritance | Gene/locus | Specific phenotype |
|---|---|---|---|
| AD, autosomal dominant; AR autosomal recessive; HSP 27, heat shock 27 kDa protein 1; HSP 22, heat shock 22 kDa protein 8; GARS, glycyl-tRNA synthetase; BSCL2, Berardinelli-Seip congenital lipodystrophy gene; IGHMBP2, immunoglobulin mu binding protein 2; DCTN1, dynactin; SETX, senataxin. | |||
| HMN I | AD | Unknown | Juvenile onset dHMN |
| HMN II | AD | HSP27 | Adult onset typical dHMN/CMT2F |
| HMN II | AD | HSP22 | Adult onset typical dHMN/CMT2L |
| HMN III | AR | 11q13 | Early onset, slowly progressive |
| HMN IV | AR | 11q13 | Juvenile onset, diaphragmatic involvement |
| HMN V | AD | GARS | Upper limb onset, slowly progressive/CMT2D |
| HMN V | AD | BSCL2 | Upper limb onset, +/−spasticity lower limbs |
| HMN VI | AR | IGHMBP2 | Spinal muscle atrophy with respiratory distress (SMARD1), infantile onset respiratory distress |
| HMN VII | AD | 2q14 | Adult onset, vocal cord paralysis |
| HMN VII | AD | DCTN1 | Adult onset, vocal cord paralysis/facial weakness |
| HMN/ALS4 | AD | SETX | Early onset, pyramidal signs |
| HMN-J | AR | 9p21.1-p12 | Juvenile onset, pyramidal features, Jerash |